Barbara K Burton

  • 6056 Citations
1973 …2019
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Research Output 1973 2019

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Article
2019
2 Citations (Scopus)

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Longo, N., Dimmock, D., Levy, H., Viau, K., Bausell, H., Bilder, D. A., Burton, B. K., Gross, C., Northrup, H., Rohr, F., Sacharow, S., Sanchez-Valle, A., Stuy, M., Thomas, J., Vockley, J., Zori, R. & Harding, C. O., Aug 1 2019, In : Genetics in Medicine. 21, 8, p. 1851-1867 17 p.

Research output: Contribution to journalArticle

Phenylketonurias
Politics
Delivery of Health Care
Phenylalanine
Manuscripts

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K. H., Burton, B. K., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 others, Reyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., Jul 1 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286 11 p.

Research output: Contribution to journalArticle

Histones
Lysine
Methylation
Genes
Exome

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria

Zori, R., Ahring, K., Burton, B. K., Pastores, G. M., Rutsch, F., Jha, A., Jurecki, E., Rowell, R. & Harding, C., Jan 1 2019, In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Open Access
Phenylketonurias
Standard of Care
Phenylalanine
Nutrition
Blood
3 Citations (Scopus)

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

Vockley, J., Burton, B. K., Berry, G. T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Bowden, A., Chen, W., Chen, C. Y., Cataldo, J., Marsden, D. & Kakkis, E., Jan 1 2019, In : Journal of inherited metabolic disease. 42, 1, p. 169-177 9 p.

Research output: Contribution to journalArticle

Open Access
Hospitalization
Fatty Acids
Rhabdomyolysis
Pediatrics
Cardiomyopathies
3 Citations (Scopus)

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B. K., Kim, K. H., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I. & 12 others, Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 601-607 7 p.

Research output: Contribution to journalArticle

Exome
Phenotype
Genotype
Rhabdomyolysis
Brain Diseases
2018
4 Citations (Scopus)

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study

Hendriksz, C. J., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F. J., Hughes, D. A., Matousek, R., Hawley, S. M., Decker, C. & Harmatz, P. R., Feb 1 2018, In : Molecular Genetics and Metabolism. 123, 2, p. 127-134 8 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Activities of Daily Living
Self Care
Mucopolysaccharidoses
Labels
5 Citations (Scopus)

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: Combined phase 2 outcomes through PAL-003 extension study

Longo, N., Zori, R., Wasserstein, M. P., Vockley, J., Burton, B. K., Decker, C., Li, M., Lau, K., Jiang, J., Larimore, K. & Thomas, J. A., Jul 4 2018, In : Orphanet journal of rare diseases. 13, 1, 108.

Research output: Contribution to journalArticle

Phenylketonurias
Phenylalanine
Safety
Phenylalanine Ammonia-Lyase
Social Adjustment
11 Citations (Scopus)

Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial

PRISM-2 Investigators, May 1 2018, In : Molecular Genetics and Metabolism. 124, 1, p. 20-26 7 p.

Research output: Contribution to journalArticle

Phase III Clinical Trials
Phenylketonurias
Phenylalanine
Blood
Placebos
3 Citations (Scopus)

Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria

Burton, B. K., Jones, K. B., Cederbaum, S., Rohr, F., Waisbren, S., Irwin, D. E., Kim, G., Lilienstein, J., Alvarez, I., Jurecki, E. & Levy, H., Nov 1 2018, In : Molecular Genetics and Metabolism. 125, 3, p. 228-234 7 p.

Research output: Contribution to journalArticle

Phenylketonurias
Insurance
Comorbidity
International Classification of Diseases
Phenylalanine Hydroxylase
1 Citation (Scopus)

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

Vockley, J., Burton, B. K., Berry, G. T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Bowden, A., Chen, W., Chen, C. Y., Cataldo, J., Marsden, D. & Kakkis, E., Jul 9 2018, (Accepted/In press) In : Journal of inherited metabolic disease. p. 1-8 8 p.

Research output: Contribution to journalArticle

Hospitalization
Fatty Acids
Rhabdomyolysis
Pediatrics
Cardiomyopathies
2017
6 Citations (Scopus)

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

Harmatz, P. R., Mengel, E., Geberhiwot, T., Muschol, N., Hendriksz, C. J., Burton, B. K., Jameson, E., Berger, K. I., Jester, A., Treadwell, M., Sisic, Z. & Decker, C., Feb 1 2017, In : American Journal of Medical Genetics, Part A. 173, 2, p. 375-383 9 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Walking
Enzyme Replacement Therapy
Keratan Sulfate
Pinch Strength
28 Citations (Scopus)

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

Burton, B. K., Charrow, J., Hoganson, G. E., Waggoner, D., Tinkle, B., Braddock, S. R., Schneider, M., Grange, D. K., Nash, C., Shryock, H., Barnett, R., Shao, R., Basheeruddin, K. & Dizikes, G., Nov 1 2017, In : Journal of Pediatrics. 190, p. 130-135 6 p.

Research output: Contribution to journalArticle

Newborn Infant
Glycogen Storage Disease Type II
Mucopolysaccharidosis I
Fabry Disease
Gaucher Disease
2 Citations (Scopus)

Progression of liver disease in children and adults with lysosomal acid lipase deficiency

Burton, B. K., Silliman, N. & Marulkar, S., Jul 3 2017, In : Current Medical Research and Opinion. 33, 7, p. 1211-1214 4 p.

Research output: Contribution to journalArticle

Liver Transplantation
Liver Diseases
Fibrosis
Documentation
Biopsy
6 Citations (Scopus)

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

Burton, B. K., Jego, V., Mikl, J. & Jones, S. A., Nov 1 2017, In : Journal of inherited metabolic disease. 40, 6, p. 867-874 8 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Survival
Confidence Intervals
Genetic Databases
Enzyme Replacement Therapy
6 Citations (Scopus)

The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease

Burton, B. K., Kronn, D. F., Hwu, W. L. & Kishnani, P. S., Jul 1 2017, In : Pediatrics. 140, e20160280D.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Newborn Infant
DNA Sequence Analysis
Glucosidases
Essential Genes
15 Citations (Scopus)

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

Vockley, J., Burton, B. K., Berry, G. T., Longo, N., Phillips, J., Sanchez-Valle, A., Tanpaiboon, P., Grunewald, S., Murphy, E., Humphrey, R., Mayhew, J., Bowden, A., Zhang, L., Cataldo, J., Marsden, D. L. & Kakkis, E., Apr 1 2017, In : Molecular Genetics and Metabolism. 120, 4, p. 370-377 8 p.

Research output: Contribution to journalArticle

Fatty Acids
Safety
Oxidation
Exercise Tolerance
Muscle
2016
2 Citations (Scopus)

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

Bentler, K., Zhai, S., Elsbecker, S. A., Arnold, G. L., Burton, B. K., Vockley, J., Cameron, C. A., Hiner, S. J., Edick, M. J., Berry, S. A., Thomas, J., Dodge, M., Singh, R., Lakshman, S., Coakley, K., Stembridge, A., Russi, A. S., Phillips, E., Burton, B., Edano, C. & 62 others, Shrestha, S., Hoganson, G., Dwyer, L., Hainline, B., Romie, S., Hainline, S., Asamoah, A., Goodin, K., Rajakaruna, C., Jackson, K., Hamosh, A., Vernon, H., Smith, N., Ahmad, A., Lipinski, S., Feldman, G., Berry, S., Elsbecker, S., Bentler, K., Font-Montgomery, E., Peck, D., Pena, L. D. M., Koeberl, D. D., Jiang, Y. H., Kishnani, P. S., Rizzo, W., Dawson, M., Ambrose, N., Levy, P., Kronn, D., Fong, C. T., D'Aco, K., Hart, T., Erbe, R., Samons, M., Leslie, N., Powers, R., Bartholomew, D., Goff, M., vanCalcar, S., Hansen, J., Arnold, G., Vockley, J., Walsh-Vockley, C., Rhead, W., Dimmock, D., Engelking, P., Bird, C., Swan, A., Schwoerer, J. S., Henry, S., Narumanchi, T. C., Hummel, M., Wilkins, J., Davis-Keppen, L., Stein, Q., Loman, R., Cameron, C., Edick, M. J., Hiner, S. J., Justice, K. & Zhai, S., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 75-82 8 p.

Research output: Contribution to journalArticle

Acyl-CoA Dehydrogenase
Inborn Errors Metabolism
Metabolism
Health
Newborn Infant
18 Citations (Scopus)

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Bacino, A., Lee, B. H., Balasubramanyam, A., Burrage, L. C., Clark, G. D., Craigen, W. J., Dhar, S. U., Emrick, L. T. & 180 others, Graham, B. H., Jain, M., Lalani, S. R., Lewis, R. A., Moretti, P. M., Nicholas, S. K., Orange, J. S., Posey, J. E., Potocki, L., Rosenfeld, J. A., Scott, D. A., Hanchard, N. A., Alyssa, T. A., Mercedes, A. E., Mashid, A. S., Bellen, H. J., Yamamoto, S., Wangler, M. F., Westerfield, M., Postlethwait, J. H., Eng, C. M., Yang, Y., Muzny, D. M., Ward, P. A., Ramoni, R. B., McCray, A. T., Kohane, I. S., Holm, I. A., Might, M., Mazur, P., Splinter, K., Esteves, C., Shashi, V., Jiang, Y. H., Pena, L. D. M., McConkie-Rosell, A., Schoch, K., Spillmann, R. C., Sullivan, J. A., Walley, N. M., Goldstein, D. B., Stong, N., Beggs, A. H., Loscalzo, J., MacRae, C. A., Silverman, E. K., Stoler, J. M., Sweetser, D. A., Maas, R. L., Krier, J. B., Rodan, L. H., Walsh, C. A., Cooper, C. M., Pallais, J. C., Donnell-Fink, L. A., Krieg, E. L., Lincoln, S. A., Briere, L. C., Jacob, H. J., Worthey, E. A., Lazar, J., Strong, K. A., Handley, L. H., Newberry, J. S., Bick, D. P., Schroeder, M. C., Brown, D. M., Birch, C. L., Levy, S. E., Boone, B. E., Dorset, D. C., Jones, A. L., Manolio, T. A., Mulvihill, J. J., Wise, A. L., Dayal, J. G., Eckstein, D. J., Krasnewich, D. M., Loomis, C. R., Mamounas, L. A., Iglesias, B., Martin, C., Koeller, D. M., Metz, T. O., Ashley, E. A., Fisher, P. G., Bernstein, J. A., Wheeler, M. T., Zornio, P. A., Waggott, D. M., Dries, A. M., Kohler, J. N., Dipple, K. M., Nelson, S. F., Palmer, C. G. S., Vilain, E., Allard, P., Dell Angelica, E. C., Lee, H., Sinsheimer, J. S., Papp, J. C., Dorrani, N., Herzog, M. R., Barseghyan, H., Adams, D. R., Adams, C. J., Burke, E. A., Chao, K. R., Davids, M., Draper, D. D., Estwick, T., Frisby, T. S., Frost, K., Gahl, W. A., Gartner, V., Godfrey, R. A., Goheen, M., Golas, G. A., Gordon, M. G., Groden, C. A., Gropman, A. L., Hackbarth, M. E., Hardee, I., Johnston, J. M., Koehler, A. E., Latham, L., Latour, Y. L., Lau, C. Y. C., Lee, P. R., Levy, D. J., Liebendorder, A. P., Macnamara, E. F., Maduro, V. V., Malicdan, M. V., Markello, T. C., McCarty, A. J., Murphy, J. L., Nehrebecky, M. E., Novacic, D., Pusey, B. N., Sadozai, S., Schaffer, K. E., Sharma, P., Soldatos, A. G., Thomas, S. P., Tifft, C. J., Tolman, N. J., Toro, C., Valivullah, Z. M., Wahl, C. E., Warburton, M., Weech, A. A., Wolfe, L. A., Yu, G., Hamid, R., Newman, J. H., Phillips, J. A., Cogan, J. D., Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 991-999 9 p.

Research output: Contribution to journalArticle

Megalencephaly
Phenotype
Intellectual Disability
Body Patterning
Port-Wine Stain
7 Citations (Scopus)

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome

Hendriksz, C. J., Berger, K. I., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F., Hughes, D. A., Matousek, R., Jurecki, E., Decker, C. & Harmatz, P. R., Nov 1 2016, In : Journal of inherited metabolic disease. 39, 6, p. 839-847 9 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Enzyme Replacement Therapy
Therapeutics
Vital Capacity
Forced Expiratory Volume
4 Citations (Scopus)

In vivo monitoring of urea cycle activity with 13C-acetate as a tracer of ureagenesis

Opladen, T., Lindner, M., Das, A. M., Marquardt, T., Khan, A., Emre, S. H., Burton, B. K., Barshop, B. A., Böhm, T., Meyburg, J., Zangerl, K., Mayorandan, S., Burgard, P., Dürr, U. H. N., Rosenkranz, B., Rennecke, J., Derbinski, J., Yudkoff, M. & Hoffmann, G. F., Jan 1 2016, In : Molecular Genetics and Metabolism. 117, 1, p. 19-26 8 p.

Research output: Contribution to journalArticle

Activity Cycles
Urea
Acetates
Monitoring
Assays
20 Citations (Scopus)

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome

Hendriksz, C. J., Parini, R., AlSayed, M. D., Raiman, J., Giugliani, R., Solano Villarreal, M. L., Mitchell, J. J., Burton, B. K., Guelbert, N., Stewart, F., Hughes, D. A., Berger, K. I., Slasor, P., Matousek, R., Jurecki, E., Shaywitz, A. J. & Harmatz, P. R., Sep 1 2016, In : Molecular Genetics and Metabolism. 119, 1-2, p. 131-143 13 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Keratan Sulfate
Enzyme Replacement Therapy
Stairs
Durability
3 Citations (Scopus)

Pregnancy in patients with mucopolysaccharidosis: A case series

Stewart, F. J., Bentley, A., Burton, B. K., Guffon, N., Hale, S. L., Harmatz, P. R., Kircher, S. G., Kochhar, P. K., Mitchell, J. J., Plöckinger, U., Graham, S., Sande, S., Sisic, Z. & Johnston, T. A., Sep 1 2016, In : Molecular Genetics and Metabolism Reports. 8, p. 111-115 5 p.

Research output: Contribution to journalArticle

Mucopolysaccharidoses
Pregnancy Outcome
Fathers
Fertility
Mothers
2015
3 Citations (Scopus)

A cerebrospinal fluid collection study in pediatric and adult patients with hunter syndrome

Hendriksz, C. J., Muenzer, J., Burton, B. K., Pan, L., Wang, N., Naimy, H., Pano, A. & Barbier, A. J., Dec 1 2015, In : Journal of Inborn Errors of Metabolism and Screening. 2015, January-December, p. 1-5 5 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Cerebrospinal Fluid
Glycosaminoglycans
Pediatrics
Heparitin Sulfate
104 Citations (Scopus)

A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency

Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Grande, C. C., Coker, M., Consuelo-Sanchez, A., Deegan, P., Di Rocco, M., Enns, G. M., Erbe, R., Ezgu, F., Ficicioglu, C., Furuya, K. N., Kane, J., Laukaitis, C., Mengel, E., Neilan, E. G., Nightingale, S. & 11 others, Peters, H., Scarpa, M., Schwab, K. O., Smolka, V., Valayannopoulos, V., Wood, M., Goodman, Z., Yang, Y., Eckert, S., Rojas-Caro, S. & Quinn, A. G., Sep 10 2015, In : New England Journal of Medicine. 373, 11, p. 1010-1020 11 p.

Research output: Contribution to journalArticle

Enzyme Replacement Therapy
Lipids
Placebos
Alanine Transaminase
Fibrosis
17 Citations (Scopus)

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria

Burton, B. K., Grant, M., Feigenbaum, A., Singh, R., Hendren, R., Siriwardena, K., Phillips, J., Sanchez-Valle, A., Waisbren, S., Gillis, J., Prasad, S., Merilainen, M., Lang, W., Zhang, C., Yu, S. & Stahl, S., Mar 1 2015, In : Molecular Genetics and Metabolism. 114, 3, p. 415-424 10 p.

Research output: Contribution to journalArticle

Phenylketonurias
Executive Function
Attention Deficit Disorder with Hyperactivity
Double-Blind Method
Placebos
45 Citations (Scopus)

Clinical Features of Lysosomal Acid Lipase Deficiency

Burton, B. K., Deegan, P. B., Enns, G. M., Guardamagna, O., Horslen, S., Hovingh, G. K., Lobritto, S. J., Malinova, V., McLin, V. A., Raiman, J., Di Rocco, M., Santra, S., Sharma, R., Sykut-Cegielska, J., Whitley, C. B., Eckert, S., Valayannopoulos, V. & Quinn, A. G., Dec 1 2015, In : Journal of pediatric gastroenterology and nutrition. 61, 6, p. 619-625 7 p.

Research output: Contribution to journalArticle

Liver
Lysosomal acid lipase deficiency
Liver Failure
HDL Lipoproteins
Dyslipidemias
9 Citations (Scopus)

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Hendriksz, C. J., Muenzer, J., Vanderver, A., Davis, J. M., Burton, B. K., Mendelsohn, N. J., Wang, N., Pan, L., Pano, A. & Barbier, A. J., Dec 1 2015, In : Molecular Genetics and Metabolism Reports. 5, p. 103-106 4 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Glycosaminoglycans
Cerebrospinal Fluid
Young Adult
Mucopolysaccharidoses
21 Citations (Scopus)

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome

Harmatz, P. R., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S. P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J. J., Martins, A. M., Jones, S. A., Guelbert, N., Vellodi, A., Wijburg, F. A., Yang, K., Slasor, P. & Decker, C., Feb 1 2015, In : Molecular Genetics and Metabolism. 114, 2, p. 186-194 9 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Natural History
Stairs
Ventilation
Vital Capacity
9 Citations (Scopus)

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: A two-year analysis of safety and efficacy

Longo, N., Siriwardena, K., Feigenbaum, A., Dimmock, D., Burton, B. K., Stockler, S., Waisbren, S., Lang, W., Jurecki, E., Zhang, C. & Prasad, S., May 8 2015, In : Genetics in Medicine. 17, 5, p. 365-373 9 p.

Research output: Contribution to journalArticle

Phenylketonurias
Phenylalanine
Safety
Social Adjustment
sapropterin
35 Citations (Scopus)

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

STRIVE Investigators, Jan 1 2015, In : Molecular Genetics and Metabolism. 114, 2, p. 178-185 8 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Placebos
Maximal Voluntary Ventilation
Ventilation
Composite materials
60 Citations (Scopus)

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M. R. F., Venselaar, H., Helsmoortel, C., Cho, M. T., Hoischen, A., Vissers, L. E. L. M., Koemans, T. S., Wissink-Lindhout, W., Eichler, E. E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K. & 65 others, Van Bon, B. W. M., Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B. L., Van Dijck, A., Innes, A. M., Racher, H., Vermeer, S., Di Donato, N., Rump, A., Tatton-Brown, K., Parker, M. J., Henderson, A., Lynch, S. A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S., Schieving, J., Giltay, J., Van gassen, K. L. I., Schuurs-Hoeijmakers, J., Tan, P. L., Pediaditakis, I., Haas, S. A., Retterer, K., Reed, P., Monaghan, K. G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M. C., Stein, Q., Strauss, K. A., Brigatti, K. W., Keating, K., Burton, B. K., Kim, K. H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A. D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K. M., Van Roozendaal, K., Brunner, H., Chung, W. K., Kooy, R. F., Pfundt, R., Kalscheuer, V., Mehta, S. G., Katsanis, N. & Kleefstra, T., Aug 6 2015, In : American Journal of Human Genetics. 97, 2, p. 343-352 10 p., 1916.

Research output: Contribution to journalArticle

Intellectual Disability
Mutation
X-Linked Genes
Exome
Sexism
20 Citations (Scopus)

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study

Burton, B. K., Berger, K. I., Lewis, G. D., Tarnopolsky, M., Treadwell, M., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R., Genter, F., Shaywitz, A. J. & Harmatz, P., Oct 1 2015, In : American Journal of Medical Genetics, Part A. 167, 10, p. 2272-2281 10 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Double-Blind Method
Muscle Strength
Keratan Sulfate
Safety
1 Citation (Scopus)
Mucopolysaccharidosis II
Anti-Idiotypic Antibodies
Intravenous Immunoglobulins
Urine
Methotrexate
2014
96 Citations (Scopus)

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

Hendriksz, C. J., Burton, B. K., Fleming, T. R., Harmatz, P., Hughes, D., Jones, S. A., Lin, S. P., Mengel, E., Scarpa, M., Valayannopoulos, V., Giugliani, R., Slasor, P., Lounsbury, D. & Dummer, W., Oct 23 2014, In : Journal of inherited metabolic disease. 37, 6, p. 979-990 12 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
Mucopolysaccharidoses
Enzyme Replacement Therapy
Keratan Sulfate
Placebos
17 Citations (Scopus)

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1

Jorgez, C. J., Rosenfeld, J. A., Wilken, N. R., Vangapandu, H. V., Sahin, A., Pham, D., Carvalho, C. M. B., Bandholz, A., Miller, A., Weaver, D. D., Burton, B. K., Babu, D., Bamforth, J. S., Wilks, T., Flynn, D. P., Roeder, E., Patel, A., Cheung, S. W., Lupski, J. R. & Lamb, D. J., Sep 1 2014, In : PLoS One. 9, 9, e107028.

Research output: Contribution to journalArticle

genomics
Defects
Genitalia
bladder
genitalia
2 Citations (Scopus)
Mucopolysaccharidosis II
Intensive care units
Transient Tachypnea of the Newborn
Neonatal Intensive Care
Neonatal Intensive Care Units
36 Citations (Scopus)

Liver transplantation for pediatric metabolic disease

Mazariegos, G., Shneider, B., Burton, B. K., Fox, I. J., Hadzic, N., Kishnani, P., Morton, D. H., Mcintire, S., Sokol, R. J., Summar, M., White, D., Chavanon, V. & Vockley, J., Jan 1 2014, In : Molecular Genetics and Metabolism. 111, 4, p. 418-427 10 p.

Research output: Contribution to journalArticle

Pediatrics
Metabolic Diseases
Liver
Liver Transplantation
Liver Diseases
16 Citations (Scopus)

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

Lampe, C., Bosserhoff, A. K., Burton, B. K., Giugliani, R., de Souza, C. F., Bittar, C., Muschol, N., Olson, R. & Mendelsohn, N. J., Sep 1 2014, In : Journal of inherited metabolic disease. 37, 5, p. 823-829 7 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis II
Enzyme Replacement Therapy
Signs and Symptoms
Phenotype
Articular Range of Motion
23 Citations (Scopus)

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): Under-recognized and challenging to diagnose

Lachman, R. S., Burton, B. K., Clarke, L. A., Hoffinger, S., Ikegawa, S., Jin, D. K., Kano, H., Kim, O. H., Lampe, C., Mendelsohn, N. J., Shediac, R., Tanpaiboon, P. & White, K. K., Mar 1 2014, In : Skeletal Radiology. 43, 3, p. 359-369 11 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis VI
Mucopolysaccharidosis IV
Mucopolysaccharidoses
Osteochondrodysplasias
Delayed Diagnosis
173 Citations (Scopus)

Phenylalanine hydroxylase deficiency: Diagnosis and management guideline

Vockley, J., Andersson, H. C., Antshel, K. M., Braverman, N. E., Burton, B. K., Frazier, D. M., Mitchell, J., Smith, W. E., Thompson, B. H. & Berry, S. A., Jan 1 2014, In : Genetics in Medicine. 16, 2, p. 188-200 13 p.

Research output: Contribution to journalArticle

Phenylketonurias
Guidelines
Phenylalanine
Therapeutics
National Institutes of Health (U.S.)
98 Citations (Scopus)

Phenylketonuria scientific review conference: State of the science and future research needs

Camp, K. M., Parisi, M. A., Acosta, P. B., Berry, G. T., Bilder, D. A., Blau, N., Bodamer, O. A., Brosco, J. P., Brown, C. S., Burlina, A. B., Burton, B. K., Chang, C. S., Coates, P. M., Cunningham, A. C., Dobrowolski, S. F., Ferguson, J. H., Franklin, T. D., Frazier, D. M., Grange, D. K., Greene, C. L. & 42 others, Groft, S. C., Harding, C. O., Howell, R. R., Huntington, K. L., Hyatt-Knorr, H. D., Jevaji, I. P., Levy, H. L., Lichter-Konecki, U., Lindegren, M. L., Lloyd-Puryear, M. A., Matalon, K., MacDonald, A., McPheeters, M. L., Mitchell, J. J., Mofidi, S., Moseley, K. D., Mueller, C. M., Mulberg, A. E., Nerurkar, L. S., Ogata, B. N., Pariser, A. R., Prasad, S., Pridjian, G., Rasmussen, S. A., Reddy, U. M., Rohr, F. J., Singh, R. H., Sirrs, S. M., Stremer, S. E., Tagle, D. A., Thompson, S. M., Urv, T. K., Utz, J. R., van Spronsen, F., Vockley, J., Waisbren, S. E., Weglicki, L. S., White, D. A., Whitley, C. B., Wilfond, B. S., Yannicelli, S. & Young, J. M., Jan 1 2014, In : Molecular Genetics and Metabolism. 112, 2, p. 87-122 36 p.

Research output: Contribution to journalArticle

Phenylketonurias
Phenylalanine
Blood
Testing
Nutrition
17 Citations (Scopus)

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry

Grange, D. K., Hillman, R. E., Burton, B. K., Yano, S., Vockley, J., Fong, C. T., Hunt, J., Mahoney, J. J. & Cohen-Pfeffer, J. L., Jan 1 2014, In : Molecular Genetics and Metabolism. 112, 1, p. 9-16 8 p.

Research output: Contribution to journalArticle

Phenylketonurias
Registries
Pregnant Women
Phenylalanine
Blood
66 Citations (Scopus)

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: An open-label, multicentre, phase 1 dose-escalation trial

Longo, N., Harding, C. O., Burton, B. K., Grange, D. K., Vockley, J., Wasserstein, M., Rice, G. M., Dorenbaum, A., Neuenburg, J. K., Musson, D. G., Gu, Z. & Sile, S., Jan 1 2014, In : The Lancet. 384, 9937, p. 37-44 8 p.

Research output: Contribution to journalArticle

Phenylalanine Ammonia-Lyase
Phenylketonurias
Phenylalanine
Pharmaceutical Preparations
Safety
25 Citations (Scopus)

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Adams, D. R., Yuan, H., Holyoak, T., Arajs, K. H., Hakimi, P., Markello, T. C., Wolfe, L. A., Vilboux, T., Burton, B. K., Fajardo, K. F., Grahame, G., Holloman, C., Sincan, M., Smith, A. C. M., Wells, G. A., Huang, Y., Vega, H., Snyder, J. P., Golas, G. A., Tifft, C. J. & 5 others, Boerkoel, C. F., Hanson, R. W., Traynelis, S. F., Kerr, D. S. & Gahl, W. A., Nov 1 2014, In : Molecular Genetics and Metabolism. 113, 3, p. 161-170 10 p.

Research output: Contribution to journalArticle

Smith-Magenis Syndrome
Rare Diseases
N-Methyl-D-Aspartate Receptors
Siblings
Glutamic Acid
2013
18 Citations (Scopus)

A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics

Burton, B. K., Leviton, L., Vespa, H., Coon, H., Longo, N., Lundy, B. D., Johnson, M., Angelino, A., Hamosh, A. & Bilder, D., Jan 1 2013, In : Molecular Genetics and Metabolism. 108, 1, p. 8-12 5 p.

Research output: Contribution to journalArticle

Phenylketonurias
Psychiatry
Screening
Executive Function
Incidence
25 Citations (Scopus)

CDKL5 and ARX mutations in males with early-onset epilepsy

Mirzaa, G. M., Paciorkowski, A. R., Marsh, E. D., Berry-Kravis, E. M., Medne, L., Alkhateeb, A., Grix, A., Wirrell, E. C., Powell, B. R., Nickels, K. C., Burton, B. K., Paras, A. L., Kim, K. H., Chung, W., Dobyns, W. B. & Das, S., Jan 1 2013, In : Pediatric neurology. 48, 5, p. 367-377 11 p.

Research output: Contribution to journalArticle

Epilepsy
Mutation
Language Development Disorders
Phenotype
Molecular Pathology
36 Citations (Scopus)

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

Kim, K. H., Dodsworth, C., Paras, A. & Burton, B. K., Aug 1 2013, In : Molecular Genetics and Metabolism. 109, 4, p. 382-385 4 p.

Research output: Contribution to journalArticle

Mucopolysaccharidoses
Genistein
Neurology
Central Nervous System
Therapeutics
31 Citations (Scopus)

Psychiatric symptoms in adults with phenylketonuria

Bilder, D. A., Burton, B. K., Coon, H., Leviton, L., Ashworth, J., Lundy, B. D., Vespa, H., Bakian, A. V. & Longo, N., Mar 1 2013, In : Molecular Genetics and Metabolism. 108, 3, p. 155-160 6 p.

Research output: Contribution to journalArticle

Phenylketonurias
Phenylalanine
Psychiatry
Equipment and Supplies
Screening
69 Citations (Scopus)

The Morquio A Clinical Assessment Program: Baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects

Harmatz, P., Mengel, K. E., Giugliani, R., Valayannopoulos, V., Lin, S. P., Parini, R., Guffon, N., Burton, B. K., Hendriksz, C. J., Mitchell, J., Martins, A., Jones, S., Guelbert, N., Vellodi, A., Hollak, C., Slasor, P. & Decker, C., May 1 2013, In : Molecular Genetics and Metabolism. 109, 1, p. 54-61 8 p.

Research output: Contribution to journalArticle

Keratan Sulfate
Stairs
Durability
Mucopolysaccharidosis IV
Growth Charts
2012
38 Citations (Scopus)

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Solomon, B. D., Bear, K. A., Wyllie, A., Keaton, A. A., Dubourg, C., David, V., Mercier, S., Odent, S., Hehr, U., Paulussen, A., Clegg, N. J., Delgado, M. R., Bale, S. J., Lacbawan, F., Ardinger, H. H., Aylsworth, A. S., Bhengu, N. L., Braddock, S., Brookhyser, K., Burton, B. K. & 25 others, Gaspar, H., Grix, A., Horovitz, D., Kanetzke, E., Kayserili, H., Lev, D., Nikkel, S. M., Norton, M., Roberts, R., Saal, H., Schaefer, G. B., Schneider, A., Smith, E. K., Sowry, E., Spence, M. A., Shalev, S. A., Steiner, C. E., Thompson, E. M., Winder, T. L., Balog, J. Z., Hadley, D. W., Zhou, N., Pineda-Alvarez, D. E., Roessler, E. & Muenke, M., Jul 1 2012, In : Journal of Medical Genetics. 49, 7, p. 473-479 7 p.

Research output: Contribution to journalArticle

Holoprosencephaly
Mutation
Genes
National Institutes of Health (U.S.)
Genetic Association Studies